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Results: 1 to 20 of 136

1.

Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia.

Martorell L, Tondo M, Garcia-Fructuoso F, Naudo M, Alegre C, Gamez J, Genovés J, Poo P.

Clin Rheumatol. 2012 Nov;31(11):1611-5. doi: 10.1007/s10067-012-2052-y. Epub 2012 Aug 18.

PMID:
22903700
[PubMed - indexed for MEDLINE]
2.

Fibromyalgia in fragile X mental retardation 1 gene premutation carriers.

Leehey MA, Legg W, Tassone F, Hagerman R.

Rheumatology (Oxford). 2011 Dec;50(12):2233-6. doi: 10.1093/rheumatology/ker273. Epub 2011 Sep 16.

PMID:
21926154
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Screening for the presence of FMR1 premutation alleles in women with parkinsonism.

Cilia R, Kraff J, Canesi M, Pezzoli G, Goldwurm S, Amiri K, Tang HT, Pan R, Hagerman PJ, Tassone F.

Arch Neurol. 2009 Feb;66(2):244-9. doi: 10.1001/archneurol.2008.548.

PMID:
19204162
[PubMed - indexed for MEDLINE]
4.

Screening for the presence of FMR1 premutation alleles in women with fibromyalgia.

Rodriguez-Revenga L, Madrigal I, Blanch-Rubió J, Elurbe DM, Docampo E, Collado A, Vidal J, Carbonell J, Estivill X, Mila M.

Gene. 2013 Jan 10;512(2):305-8. doi: 10.1016/j.gene.2012.10.016. Epub 2012 Oct 27.

PMID:
23111161
[PubMed - indexed for MEDLINE]
5.

An assessment of screening strategies for fragile X syndrome in the UK.

Pembrey ME, Barnicoat AJ, Carmichael B, Bobrow M, Turner G.

Health Technol Assess. 2001;5(7):1-95. Review.

PMID:
11262423
[PubMed - indexed for MEDLINE]
Free Article
6.

FXTAS in spanish patients with ataxia: support for female FMR1 premutation screening.

Rodriguez-Revenga L, Gómez-Anson B, Muñoz E, Jiménez D, Santos M, Tintoré M, Martín G, Brieva L, Milà M.

Mol Neurobiol. 2007 Jun;35(3):324-8.

PMID:
17917121
[PubMed - indexed for MEDLINE]
7.

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.

Rodriguez-Revenga L, Madrigal I, Pagonabarraga J, Xunclà M, Badenas C, Kulisevsky J, Gomez B, Milà M.

Eur J Hum Genet. 2009 Oct;17(10):1359-62. doi: 10.1038/ejhg.2009.51. Epub 2009 Apr 15.

PMID:
19367323
[PubMed - indexed for MEDLINE]
Free PMC Article
8.
9.

A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.

Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ.

J Mol Diagn. 2008 Jan;10(1):43-9. doi: 10.2353/jmoldx.2008.070073. Epub 2007 Dec 28.

PMID:
18165273
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Fibroblast phenotype in male carriers of FMR1 premutation alleles.

Garcia-Arocena D, Yang JE, Brouwer JR, Tassone F, Iwahashi C, Berry-Kravis EM, Goetz CG, Sumis AM, Zhou L, Nguyen DV, Campos L, Howell E, Ludwig A, Greco C, Willemsen R, Hagerman RJ, Hagerman PJ.

Hum Mol Genet. 2010 Jan 15;19(2):299-312. doi: 10.1093/hmg/ddp497. Epub 2009 Oct 28.

PMID:
19864489
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Prenatal carrier testing for fragile X: counseling issues and challenges.

Musci TJ, Moyer K.

Obstet Gynecol Clin North Am. 2010 Mar;37(1):61-70, Table of Contents. doi: 10.1016/j.ogc.2010.03.004.

PMID:
20494258
[PubMed - indexed for MEDLINE]
12.

Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern.

Rodriguez-Revenga L, Madrigal I, Badenas C, Xunclà M, Jiménez L, Milà M.

Menopause. 2009 Sep-Oct;16(5):944-9. doi: 10.1097/gme.0b013e3181a06a37.

PMID:
19373114
[PubMed - indexed for MEDLINE]
13.

Prevalence and risk of migraine headaches in adult fragile X premutation carriers.

Au J, Akins RS, Berkowitz-Sutherland L, Tang HT, Chen Y, Boyd A, Tassone F, Nguyen DV, Hagerman R.

Clin Genet. 2013 Dec;84(6):546-51. doi: 10.1111/cge.12109. Epub 2013 Feb 21.

PMID:
23373759
[PubMed - indexed for MEDLINE]
14.

Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS).

Adams JS, Adams PE, Nguyen D, Brunberg JA, Tassone F, Zhang W, Koldewyn K, Rivera SM, Grigsby J, Zhang L, DeCarli C, Hagerman PJ, Hagerman RJ.

Neurology. 2007 Aug 28;69(9):851-9.

PMID:
17724287
[PubMed - indexed for MEDLINE]
15.

Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation.

Hessl D, Tassone F, Loesch DZ, Berry-Kravis E, Leehey MA, Gane LW, Barbato I, Rice C, Gould E, Hall DA, Grigsby J, Wegelin JA, Harris S, Lewin F, Weinberg D, Hagerman PJ, Hagerman RJ.

Am J Med Genet B Neuropsychiatr Genet. 2005 Nov 5;139B(1):115-21.

PMID:
16184602
[PubMed - indexed for MEDLINE]
16.

FMR1-Related Disorders.

Saul RA, Tarleton JC.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
1998 Jun 16 [updated 2012 Apr 26].

17.

Newborn, carrier, and early childhood screening recommendations for fragile X.

Abrams L, Cronister A, Brown WT, Tassone F, Sherman SL, Finucane B, McConkie-Rosell A, Hagerman R, Kaufmann WE, Picker J, Coffey S, Skinner D, Johnson V, Miller R, Berry-Kravis E.

Pediatrics. 2012 Dec;130(6):1126-35. doi: 10.1542/peds.2012-0693. Epub 2012 Nov 5. Review.

PMID:
23129072
[PubMed - indexed for MEDLINE]
Free Article
18.

Fragile X carrier screening and FMR1 allele distribution in the Japanese population.

Otsuka S, Sakamoto Y, Siomi H, Itakura M, Yamamoto K, Matumoto H, Sasaki T, Kato N, Nanba E.

Brain Dev. 2010 Feb;32(2):110-4. doi: 10.1016/j.braindev.2008.12.015. Epub 2009 Feb 10.

PMID:
19211207
[PubMed - indexed for MEDLINE]
19.

Screening for FXTAS in 95 Spanish patients negative for Huntington disease.

Rodriguez-Revenga L, Santos MM, Sánchez A, Pujol M, Gómez-Anson B, Badenas C, Jiménez D, Madrigal I, Milà M.

Genet Test. 2008 Mar;12(1):135-8. doi: 10.1089/gte.2007.0074.

PMID:
18373410
[PubMed - indexed for MEDLINE]
20.

Fragile X spectrum disorders.

Lozano R, Rosero CA, Hagerman RJ.

Intractable Rare Dis Res. 2014 Nov;3(4):134-46. doi: 10.5582/irdr.2014.01022. Review.

PMID:
25606363
[PubMed]
Free PMC Article
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